An accessible guidebook for all clinicians and caregivers addressing the neurobehavioral problems associated with Prader-Willi Syndrome.

On March 28, 1971, Fausta Deterling gave birth to a boy. Curtis was floppy and had little appetite. When he was five months old, a doctor told his parents that Curtis had something called Prader-Willi syndrome. He told them Curtis would develop a huge appetite as a toddler, would become quite obese, would not be 100 percent mentally, and would not live past his twenties. There was no cure or treatment, the doctor said. Fausta and her husband, Gene, did not accept this. They banded with other parents, and with a handful of professionals, to try to make better lives for their children.The small number of professionals interested in Prader-Willi syndrome made some gains, although the syndrome remained obscure. But in the 1980s Prader-Willi syndrome became the focus of a worldwide genetic mystery. And the resolution of that mystery would change the textbooks.

Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.

The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

Increasing interest over recent years in the study of the influences of environment and genetic factors on behavioural disorder has come from a wide range of disciplines. These studies have subsequently been focused through the foundation of the Society for the Study of Behavioural Phenotypes, which forms the basis for assimilating new information and coordinating future research in this field. This volume from founder members of the society presents a distillation of thinking and reviews appropriate measurement schedules. Including research findings, explanation of concepts, genetic scientific techniques and methodological issues, this work will be welcomed by those with an interest in behavioural disorder at every level.

Management of Prader-Willi Syndrome is the first book to provide a comprehensive source of knowledge about Prader-Willi Syndrome and to offer common-sense guidelines for management. It consists of contributions from professionals in many health and allied disciplines who have worked with this special population. The book focuses on clinical, social, familial, and community issues related to care. It is directed to health, education, and other specialists in academic, clinical, and community settings. Management of Prader-Willi Syndrome describes strategies for management which are appropriate to an interdisciplinary approach.

When the first edition of Pediatric Psychopharmacology published in 2002, it filled a void in child and adolescent psychiatry and quickly establishing itself as the definitive text-reference in pediatric psychopharmacology. While numerous short, clinically focused paperbacks have been published since then, no competitors with the scholarly breadth, depth, and luster of this volume have emerged. In the second edition, Christopher Kratochvil, MD, a highly respected expert in pediatric psychopharmacology, joins the outstanding editorial team led by Dr. Martin and Dr. Scahill. In the new edition, the editors streamline the flow of information to reflect the growth in scientific data since the first edition appeared. The overall structure of the book remains the same, with major sections on underlying biology; somatic interventions; assessment and treatment; and special considerations.

This book provides comprehensive coverage of all aspects related to pediatric sleep and its associated disorders. It addresses the ontogeny and maturational aspects of physiological sleep and circadian rhythms, as well as the effects of sleep on the various organ systems as a function of development. Organized into nine sections, the book begins with a basic introduction to sleep, and proceeds into an extensive coverage of normative sleep and functional homeostasis. Part three then concisely examines the humoral and developmental aspects of sleep, namely the emerging role of metabolic tissue and the intestinal microbiota in regulation. Parts four, five, and six discuss diagnoses methods, techniques in sleep measurement, and specific aspects of pharmacotherapy and ventilator support for the pediatric patient. Various sleep disorders are explored in part seven, followed by an in-depth analysis of obstructive sleep apnea in part eight. The book concludes with discussions on the presence of sleep issues in other disorders such as Down syndrome, obesity, cystic fibrosis, and asthma. Written by recognized leaders in the field, Pediatric Sleep Medicine facilitates an extensive learning experience for practicing physicians who encounter specific sleep-related issues in their practice.

Pharmacoepigenetics provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine. - Fully examines the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, treatment, current epigenetic drugs and the application of epigenetic procedures in drug development - Features chapter contributions from leading international researchers in academia, clinical settings and the pharmaceutical industry - Instructs researchers, students and clinicians on how to better interpret and employ pharmacoepigenetics in drug development, efficiency and safety - Provides a balanced and objective discussion of the future of pharmacoepigenetics and its crucial role in precision medicine